Canonical Allele Identifier: CA1133181340

Gene: SMC1A

Linked Data

• dbSNP Id: rs2075715819
• gnomAD v3: X-53412297-A-G
• gnomAD v4: X-53412297-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412297A>G , CM000685.2:g.53412297A>G	GRCh38
NC_000023.10:g.53439247A>G , CM000685.1:g.53439247A>G	GRCh37
NC_000023.9:g.53455972A>G	NCBI36
NG_006988.2:g.15374T>C , LRG_773:g.15374T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.855-44T>C MANE Select	ENSP00000323421.3:n.855-44T>C
ENST00000674590.1:c.346-396T>C	ENSP00000502626.1:n.346-396T>C
ENST00000675065.1:n.466-396T>C
ENST00000675504.1:c.789-44T>C	ENSP00000502524.1:n.789-44T>C
ENST00000322213.8:c.855-44T>C	ENSP00000323421.3:n.855-44T>C
ENST00000375340.10:c.789-44T>C	ENSP00000364489.7:n.789-44T>C
ENST00000463684.1:c.*388-44T>C	ENSP00000476958.1:n.*388-44T>C
NM_001281463.1:c.789-44T>C , LRG_773t1:c.789-44T>C	NP_001268392.1:n.789-44T>C
NM_006306.3:c.855-44T>C , LRG_773t2:c.855-44T>C	NP_006297.2:n.855-44T>C
NM_006306.4:c.855-44T>C MANE Select	NP_006297.2:n.855-44T>C